Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PFKP (phosphofructokinase, platelet)

Identity

Alias_namesplatelet type
Alias_symbol (synonym)PFK-C
PFKF
Other aliasATP-PFK
PFK-P
HGNC (Hugo) PFKP
LocusID (NCBI) 5214
Atlas_Id 46673
Location 10p15.2  [Link to chromosome band 10p15]
Location_base_pair Starts at 3067520 and ends at 3136805 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADARB2 (10p15.3) / PFKP (10p15.2)DDX5 (17q23.3) / PFKP (10p15.2)LYPLA1 (8q11.23) / PFKP (10p15.2)
MARK1 (1q41) / PFKP (10p15.2)PFKP (10p15.2) / PABPC4 (1p34.3)PFKP (10p15.2) / PSG1 (19q13.2)
PFKP (10p15.2) / STRAP (12p12.3)TG (8q24.22) / PFKP (10p15.2)DDX5 17q23.3 / PFKP 10p15.2
PFKP 10p15.2 / PSG1 19q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(10;17)(p15;q23) DDX5/PFKP
t(10;19)(p15;q13) PFKP/PSG1

External links

Nomenclature
HGNC (Hugo)PFKP   8878
Cards
Entrez_Gene (NCBI)PFKP  5214  phosphofructokinase, platelet
AliasesATP-PFK; PFK-C; PFK-P; PFKF
GeneCards (Weizmann)PFKP
Ensembl hg19 (Hinxton)ENSG00000067057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000067057 [Gene_View]  ENSG00000067057 [Sequence]  chr10:3067520-3136805 [Contig_View]  PFKP [Vega]
ICGC DataPortalENSG00000067057
TCGA cBioPortalPFKP
AceView (NCBI)PFKP
Genatlas (Paris)PFKP
WikiGenes5214
SOURCE (Princeton)PFKP
Genetics Home Reference (NIH)PFKP
Genomic and cartography
GoldenPath hg38 (UCSC)PFKP  -     chr10:3067520-3136805 +  10p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFKP  -     10p15.2   [Description]    (hg19-Feb_2009)
EnsemblPFKP - 10p15.2 [CytoView hg19]  PFKP - 10p15.2 [CytoView hg38]
Mapping of homologs : NCBIPFKP [Mapview hg19]  PFKP [Mapview hg38]
OMIM171840   
Gene and transcription
Genbank (Entrez)AA622586 AK092597 AK097692 AK126153 AK128373
RefSeq transcript (Entrez)NM_001242339 NM_001323067 NM_001323068 NM_001323069 NM_001323070 NM_001323071 NM_001323072 NM_001323073 NM_001323074 NM_001345944 NM_002627
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PFKP
Cluster EST : UnigeneHs.26010 [ NCBI ]
CGAP (NCI)Hs.26010
Alternative Splicing GalleryENSG00000067057
Gene ExpressionPFKP [ NCBI-GEO ]   PFKP [ EBI - ARRAY_EXPRESS ]   PFKP [ SEEK ]   PFKP [ MEM ]
Gene Expression Viewer (FireBrowse)PFKP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5214
GTEX Portal (Tissue expression)PFKP
Human Protein AtlasENSG00000067057-PFKP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01813
Splice isoforms : SwissVarQ01813
PhosPhoSitePlusQ01813
Domaine pattern : Prosite (Expaxy)PHOSPHOFRUCTOKINASE (PS00433)   
Domains : Interpro (EBI)6-Pfructokinase_euk    ATP_PFK    Phosphofructokinase_CS    Phosphofructokinase_dom   
Domain families : Pfam (Sanger)PFK (PF00365)   
Domain families : Pfam (NCBI)pfam00365   
Conserved Domain (NCBI)PFKP
DMDM Disease mutations5214
Blocks (Seattle)PFKP
PDB (SRS)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
PDB (PDBSum)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
PDB (IMB)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
PDB (RSDB)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
Structural Biology KnowledgeBase4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
SCOP (Structural Classification of Proteins)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
CATH (Classification of proteins structures)4RH3    4U1R    4WL0    4XYJ    4XYK    4XZ2   
SuperfamilyQ01813
Human Protein Atlas [tissue]ENSG00000067057-PFKP [tissue]
Peptide AtlasQ01813
HPRD01384
IPIIPI00009790   IPI00552290   IPI00645848   IPI00643196   IPI00646468   IPI00642664   IPI00639981   IPI00552617   
Protein Interaction databases
DIP (DOE-UCLA)Q01813
IntAct (EBI)Q01813
FunCoupENSG00000067057
BioGRIDPFKP
STRING (EMBL)PFKP
ZODIACPFKP
Ontologies - Pathways
QuickGOQ01813
Ontology : AmiGO6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  ATP binding  nucleus  cytoplasm  cytosol  fructose 6-phosphate metabolic process  membrane  extracellular matrix  protein complex binding  cadherin binding  metal ion binding  canonical glycolysis  extracellular exosome  cellular response to leukemia inhibitory factor  
Ontology : EGO-EBI6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  ATP binding  nucleus  cytoplasm  cytosol  fructose 6-phosphate metabolic process  membrane  extracellular matrix  protein complex binding  cadherin binding  metal ion binding  canonical glycolysis  extracellular exosome  cellular response to leukemia inhibitory factor  
Pathways : BIOCARTAPhosphoinositides and their downstream targets. [Genes]   
Pathways : KEGGGalactose metabolism    Insulin signaling pathway    Glycolysis / Gluconeogenesis    Fructose and mannose metabolism    Pentose phosphate pathway   
NDEx NetworkPFKP
Atlas of Cancer Signalling NetworkPFKP
Wikipedia pathwaysPFKP
Orthology - Evolution
OrthoDB5214
GeneTree (enSembl)ENSG00000067057
Phylogenetic Trees/Animal Genes : TreeFamPFKP
HOVERGENQ01813
HOGENOMQ01813
Homologs : HomoloGenePFKP
Homology/Alignments : Family Browser (UCSC)PFKP
Gene fusions - Rearrangements
Fusion : MitelmanDDX5/PFKP [17q23.3/10p15.2]  [t(10;17)(p15;q23)]  
Fusion : MitelmanPFKP/PSG1 [10p15.2/19q13.2]  [t(10;19)(p15;q13)]  
Fusion PortalDDX5 17q23.3 PFKP 10p15.2 LUAD
Fusion PortalPFKP 10p15.2 PSG1 19q13.2 BLCA
Fusion : QuiverPFKP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFKP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFKP
dbVarPFKP
ClinVarPFKP
1000_GenomesPFKP 
Exome Variant ServerPFKP
ExAC (Exome Aggregation Consortium)ENSG00000067057
GNOMAD BrowserENSG00000067057
Genetic variants : HAPMAP5214
Genomic Variants (DGV)PFKP [DGVbeta]
DECIPHERPFKP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPFKP 
Mutations
ICGC Data PortalPFKP 
TCGA Data PortalPFKP 
Broad Tumor PortalPFKP
OASIS PortalPFKP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFKP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFKP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PFKP
DgiDB (Drug Gene Interaction Database)PFKP
DoCM (Curated mutations)PFKP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFKP (select a term)
intoGenPFKP
Cancer3DPFKP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171840   
Orphanet
DisGeNETPFKP
MedgenPFKP
Genetic Testing Registry PFKP
NextProtQ01813 [Medical]
TSGene5214
GENETestsPFKP
Target ValidationPFKP
Huge Navigator PFKP [HugePedia]
snp3D : Map Gene to Disease5214
BioCentury BCIQPFKP
ClinGenPFKP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5214
Chemical/Pharm GKB GenePA33217
Clinical trialPFKP
Miscellaneous
canSAR (ICR)PFKP (select the gene name)
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFKP
EVEXPFKP
GoPubMedPFKP
iHOPPFKP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:42:40 CEST 2018
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